EPILEPSY & DYSTONIA

In this section, we will highlight two major side effects a patient with a mutation in the UBA5 gene may experience. 

In a study approved by Angers University Hospital Ethics Committee, a rare autosomal recessive variants in UBA5 was detected in 5 patients through WES testing. These children developed an early-onset severe neurological disorder consisting of Infantile Spasms followed by the development of intractable epilepsy, movement disorders, severe intellectual disability, acquired microcephaly, and failure to thrive.